Duchenne muscular dystrophy (DMD) is an X-linked syndrome that affects skeletal and cardiac muscle and is caused by mutation of the dystrophin gene. Induced pluripotent stem cells (iPSCs) were generated from dermal fibroblasts by electroporation with episomal vectors containing the reprogramming factors (OCT4, SOX2, LIN28, KLF4, and L-MYC). The donor carried an out-of-frame deletion of exons 45-50 of the dystrophin gene. The established iPSC line exhibited normal morphology, expressed pluripotency markers, had normal karyotype and possessed trilineage differentiation potential.

Reprogramming of dermal fibroblasts from a Duchenne muscular dystrophy patient carrying a deletion of exons 45–50 into an induced pluripotent stem cell line (CCMi005-A) / D. Rovina, E. Castiglioni, S. Mallia, M. Rabino, A. Farini, M. Belicchi, G. Di Giuseppe, C.C.G. Gervasini, Y. Torrente, G. Pompilio, A. Gowran. - In: STEM CELL RESEARCH. - ISSN 1876-7753. - 64:(2022 Oct), pp. 102889.1-102889.5. [10.1016/j.scr.2022.102889]

Reprogramming of dermal fibroblasts from a Duchenne muscular dystrophy patient carrying a deletion of exons 45–50 into an induced pluripotent stem cell line (CCMi005-A)

C.C.G. Gervasini;Y. Torrente;G. Pompilio
Penultimo
;
2022

Abstract

Duchenne muscular dystrophy (DMD) is an X-linked syndrome that affects skeletal and cardiac muscle and is caused by mutation of the dystrophin gene. Induced pluripotent stem cells (iPSCs) were generated from dermal fibroblasts by electroporation with episomal vectors containing the reprogramming factors (OCT4, SOX2, LIN28, KLF4, and L-MYC). The donor carried an out-of-frame deletion of exons 45-50 of the dystrophin gene. The established iPSC line exhibited normal morphology, expressed pluripotency markers, had normal karyotype and possessed trilineage differentiation potential.
No
English
Humans; Dystrophin; Inducible T-Cell Co-Stimulator Protein; Exons; Cell Differentiation; Fibroblasts; Cellular Reprogramming; Muscular Dystrophy, Duchenne; Induced Pluripotent Stem Cells
Settore MED/03 - Genetica Medica
Articolo
Esperti anonimi
Pubblicazione scientifica
ott-2022
ago-2022
Elsevier
64
102889
1
5
5
Pubblicato
Periodico con rilevanza internazionale
orcid
scopus
pubmed
crossref
wos
Aderisco
info:eu-repo/semantics/article
Reprogramming of dermal fibroblasts from a Duchenne muscular dystrophy patient carrying a deletion of exons 45–50 into an induced pluripotent stem cell line (CCMi005-A) / D. Rovina, E. Castiglioni, S. Mallia, M. Rabino, A. Farini, M. Belicchi, G. Di Giuseppe, C.C.G. Gervasini, Y. Torrente, G. Pompilio, A. Gowran. - In: STEM CELL RESEARCH. - ISSN 1876-7753. - 64:(2022 Oct), pp. 102889.1-102889.5. [10.1016/j.scr.2022.102889]
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Prodotti della ricerca::01 - Articolo su periodico
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Article (author)
Periodico con Impact Factor
D. Rovina, E. Castiglioni, S. Mallia, M. Rabino, A. Farini, M. Belicchi, G. Di Giuseppe, C.C.G. Gervasini, Y. Torrente, G. Pompilio, A. Gowran
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/959465
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